Publications by authors named "Bushra Haque"

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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
David Cheerie, Marlen C Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque

Genet Med· October 2025

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Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
David Cheerie, Margaret M Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Bushra Haque

Am J Hum Genet· May 2025

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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.
Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam

PLoS Genet· January 2025

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A comparative medical genomics approach may facilitate the interpretation of rare missense variation.
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker

J Med Genet· July 2024

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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Rachel Y Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Bushra Haque

HGG Adv· July 2024

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Estimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue.
Bushra Haque, David Cheerie, Saba Birkadze, Alice Linyan Xu, Thomas Nalpathamkalam

Eur J Hum Genet· February 2024

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Contemporary aetiologies of medical complexity in children: a cohort study.
Bushra Haque, Tayyaba Khan, Inna Ushcatz, Meredith Curtis, Amy Pan

Arch Dis Child· February 2023

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Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Bahareh A Mojarad, Worrawat Engchuan, Brett Trost, Ian Backstrom, Yue Yin, Bushra Haque

Mol Psychiatry· September 2022

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